ITF-BECKER

New therapeutic approach to Becker muscular dystrophy (BMD)

Project lead

ITALFARMACO S.P.A.

Partnership

OPIS S.R.L., Fondazione IRCCS Policlinico San Matteo

Description

Becker muscular dystrophy (DMB) is a neuromuscular pathology belonging to the group of dystrophinopathies of which Duchenne muscular dystrophy (DMD) is the most severe form. It is a rare disease, diagnosed in males between the ages of 10 and 30, and is distinguished by progressive muscle weakness resulting in loss of ambulation generally at an age between 20 and 45 years and a significant reduction of life expectancy caused by the development in some cases of a worsening dilated cardiomyopathy. Milder variants are also seen with light body aches and sometimes only increase CPK values in the blood.

There is no specific therapy for DMB: the therapeutic approach is multidisciplinary and mainly aimed at reducing or postponing possible complications. The economic impact on patients is significant, including healthcare costs, the costs of medical rehabilitation services and medical aids, the indirect costs resulting from lost productivity and absenteeism of patients and their caregivers, and the intelligible costs resulting from lower levels of quality of life and an important physical and emotional burden on families.

In partnership with Fondazione IRCCS Ca 'Granda Ospedale Maggiore Policlinico and OPIS, Italfarmaco has decided to experiment with Givinostat, a histone deacetylase inhibitor (HDAC) - currently in clinical trials to combat DMD - also for Becker dystrophy, the two dystrophies having common pathogenetic bases.

The project includes a Phase 2 experimental randomised double-blind clinical trial (some patients taking the experimental drug Givinostat and others taking a placebo) in about 50 DMB patients to evaluate the efficacy and safety of Givinostat for this form of dystrophinopathy, accompanied by a study of biomarkers for the disease. The project includes parallel preclinical studies for the evaluation of Givinostat's cardiac effects and the identification of a second generation HDAC inhibitor.

Innovation

Incremental

Regional Impact

The project, in addition to offering the possibility of finding a therapy that can slow the progression of the disease, thus improving the health of BMD patients given its huge economic impact on a social and health level, would also have a strong economic impact on the healthcare system and public expenditures: about €40,000 per year is spent on each patient.

Moreover, confirming the effectiveness of Givinostat against BMD would open the possibility of extending the field of application of this molecule for the treatment of other muscular dystrophies, as well as possible experimentation with other neurodegenerative diseases.

The project will strengthen and refine clinical research at a Lombard health facility, which can then become a centre of reference not only at a regional level but also nationally for conducting clinical trials for neuromuscular diseases. In addition, the cooperation between the various partners (industry, SMEs and healthcare infrastructure) in order to achieve a common goal and the integration of specific skills of each of the participants will improve clinical development strategies and boost the search for a treatment for a rare disease with an otherwise inexorable prognosis.

S3 Impact

The project also aims to identify a diagnostic and/or predictive morphological biomarker of disease progression through biomedical imaging techniques that will allow more precise planning of actions to be taken with the patient, as well as a parameter to evaluate the therapeutic efficacy of new potential drugs.